Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
Completed
Conditions studied: Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA, MPS VI
In brief
The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative urine screening. We will recruit participants who have certain hip and/or joint problems that could potentially be caused by one of these two genetic conditions through a chart review process conducted at Shriners Hospital for Children in Greenville, SC. Diagnostic testing will be performed for each participant to determine if he or she is affected by one of these two conditions. Results will be disclosed to all participants and their legal guardians, and appropriate follow up will be recommended for those who are found to have abnormal results.
Key facts
- Study ID
- NCT01961518
- Run by
- Greenwood Genetic Center
- People needed
- 17
- Starts
- 2013-10-01
- Expected to finish
- 2015-05-01
- Last updated by the study team
- 2015-08-13
Who can join
Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Eligible participants must currently receive care in the Shriners Hospitals for Children system, and therefore, will be under 19 years of age.
- Eligible participants must have one of the following diagnoses: bilateral Legg-Calve-Perthes disease, bilateral hip dysplasia, multiple joint pain, unidentified skeletal dysplasia
- Eligible participants (or legal guardian) must be able and willing to sign informed consent/assent in English or Spanish.
You may not qualify if…
- Participants with one or more or the above inclusion diagnoses who have a specific etiologic diagnosis will not be eligible to participate in this study.
- If we are unable to obtain the necessary specimens, the participant will be removed from the study.
Where it is running
- Greenwood Genetic Center — Greenville, South Carolina, United States
Full record on ClinicalTrials.gov
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